Rare ALK-IR (Intergenic Region) Rearrangement in a Patient with Non-Small Cell Lung Cancer: A Case Report.

IF 2.5 4区医学 Q3 ONCOLOGY

Current cancer drug targets Pub Date : 2026-06-04 DOI:10.2174/0115680096433153251111154000

Qingtao Ni, Chi Pan, Guangzhi Sun, Jianping Song, Quan Chen, Peng Wang

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引用次数: 0

Abstract

Introduction: Non-small cell lung cancer (NSCLC) accounts for most lung cancer cases, with anaplastic lymphoma kinase (ALK) rearrangement being a key driver in some instances. The identification of oncogenic drivers in lung cancer has transformed the therapeutic landscape of NSCLC management. Developing and using specific ALK inhibitors have markedly improved clinical outcomes in patients with ALK-positive tumors.

Case description: A 42-year-old male presented with hoarseness and was diagnosed with lung adenocarcinoma through lymph node biopsy. A positron emission tomography-computed tomography (PET-CT) revealed a right upper lobe mass with extensive nodal metastases. Immunohistochemistry confirmed ALK positivity, and next-generation sequencing identified a novel ALK-IR (intergenic region) rearrangement (19.09% abundance), along with mutations in tumor protein 53 (TP53) and cyclin-dependent kinase inhibitor 2A (CDKN2A). To our knowledge, this is the first report of an ALK-IR rearrangement in NSCLC. The patient was treated with crizotinib (250 mg twice daily), achieving partial remission with symptom resolution and no adverse effects over 17 months.

Conclusion: This first documented case demonstrates the therapeutic efficacy of crizotinib in ALK-IR rearranged NSCLC, emphasizing the importance of comprehensive molecular profiling in guiding precision oncology.

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罕见的ALK-IR（基因间区）重排在非小细胞肺癌患者：1例报告。

非小细胞肺癌（NSCLC）占大多数肺癌病例，在某些情况下，间变性淋巴瘤激酶（ALK）重排是关键驱动因素。肺癌的致癌驱动因素的识别已经改变了非小细胞肺癌管理的治疗前景。开发和使用特异性ALK抑制剂显著改善了ALK阳性肿瘤患者的临床结果。病例描述：一名42岁男性，表现为声音嘶哑，经淋巴结活检诊断为肺腺癌。正电子发射断层扫描（PET-CT）显示右上肺叶肿块伴广泛淋巴结转移。免疫组织化学证实ALK阳性，下一代测序鉴定出新的ALK- ir（基因间区）重排（19.09%丰度），以及肿瘤蛋白53 （TP53）和细胞周期蛋白依赖性激酶抑制剂2A （CDKN2A）的突变。据我们所知，这是NSCLC中ALK-IR重排的第一篇报道。患者接受克唑替尼治疗（250 mg，每日两次），在17个月的时间里，症状得到部分缓解，无不良反应。结论：本病例首次证实了克唑替尼治疗ALK-IR重排NSCLC的疗效，强调了综合分子谱分析对指导精准肿瘤学的重要性。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Current cancer drug targets 医学-肿瘤学

CiteScore

5.40

自引率

0.00%

发文量

105

审稿时长

1 months

期刊介绍： Current Cancer Drug Targets aims to cover all the latest and outstanding developments on the medicinal chemistry, pharmacology, molecular biology, genomics and biochemistry of contemporary molecular drug targets involved in cancer, e.g. disease specific proteins, receptors, enzymes and genes. Current Cancer Drug Targets publishes original research articles, letters, reviews / mini-reviews, drug clinical trial studies and guest edited thematic issues written by leaders in the field covering a range of current topics on drug targets involved in cancer. As the discovery, identification, characterization and validation of novel human drug targets for anti-cancer drug discovery continues to grow; this journal has become essential reading for all pharmaceutical scientists involved in drug discovery and development.